NEW ORLEANS – Sept. 18, 2024 – Women with cancer-risk mutations in BARD1, RAD51C and RAD51D could consider getting annual breast cancer screening earlier than the recommended age of 40, suggests research being presented at the National Society of Genetic Counselors (NSGC) 43rd Annual Conference.
Although BARD1, RAD51C, and RAD51D are considered low-to-moderate-risk breast cancer associated genes, the research suggests that many women who carry mutations are diagnosed at young ages, comparable to ages of diagnosis associated with moderate-to-high risk breast cancer genes. The National Comprehensive Cancer Network Clinical Practice Guidelines in Oncology (NCCN Guidelines®)1 recommend annual mammogram and magnetic resonance imaging (MRI) screening beginning at age 40 for carriers of BARD1, RAD51C and RAD51D mutations that increase the risk of cancer. Conversely, the guidelines recommend screening before age 40 for other breast cancer-risk associated genes such as ATM, CHEK2, PALB2, BRCA1 and BRCA2.
The study included 1,485 women who tested positive for cancer-risk mutations in BARD1, RAD51C or RAD51D. The women in this study were diagnosed with breast cancer at a median age of 51 (BARD1), 49 (RAD51C), and 48 (RAD51D). This is similar to the median age of diagnosis of carriers of cancer-risk mutations in other breast cancer-associated genes: 50 (ATM), 49 (CHEK2 and PALB2), and 47 (BRCA2). Researchers determined a substantial number of women with cancer-risk mutations in the three genes in question were diagnosed with breast earlier than age 40: 13.1% (BARD1), 17.5% (RAD51C) and 20.9% (RAD51D).
“Few studies look at the age of diagnosis of breast cancer in patients with mutations in these three genes,” said Susana San Román, MS, CGC, lead author of the study and Medical Information Liaison at Myriad Genetics. “Our research suggests that by following the recommendations in the current guidelines, we may be missing women with cancer-risk mutations in these genes who get breast cancer earlier than age 40. Our findings suggest that breast cancer screening at a younger age may be more suitable for these women.”
1. Referenced with permission from the NCCN Clinical Practice Guidelines in Oncology (NCCN Guidelines®) for Genetic/Familial High-Risk Assessment: Breast, Ovarian, and Pancreatic. V.3.2024. © National Comprehensive Cancer Network, Inc. 2024. All rights reserved. Accessed August 15, 2024. To view the most recent and complete version of the guideline, go online to NCCN.org. NCCN makes no warranties of any kind whatsoever regarding their content, use or application and disclaims any responsibility for their application or use in any way.
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About the National Society of Genetic Counselors
NSGC is the leading voice, authority and advocate for the genetic counseling profession. Membership represents more than 5,000 masters-level health professionals, who are committed to ensuring that the public has access to genetic counseling and genetic testing. For more information, visit www.nsgc.org.